A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038742



Internal ID19127961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57139082..57202423hg38UCSC Ensembl
Innerchr13:57713216..57776557hg19UCSC Ensembl
Innerchr13:56611217..56674558hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3863342
hg1963342
hg1863342
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1664n100
Supporting Variantsnssv3524067, nssv3524072, nssv3524068, nssv3524062, nssv3524069, nssv3524071, nssv3524061, nssv3524064, nssv3524059, nssv3524063, nssv3524065, nssv3524060, nssv3524066, nssv3524070
Samples
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038742
Frequency
Sample Size11257
Observed Gain2
Observed Loss12
Observed Complex0
Frequencyn/a


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